New Clinic Identifies Genetic Risks of Cancer for Patients

Most of us know someone who has had cancer. That’s because we are all at risk for developing the disease. Usually it’s by chance. But in some cases, cancer develops because of our genetics and that means some of us are predisposed to developing different types of cancer.

The people who are already predisposed to developing the disease not only have a greater risk of developing cancer but also passing those genes on to their children.

Because of the advances in genetic testing and the importance of detection of those inherited cancer predispositions, Cook Children’s has started the Genetic-Oncology Clinic.

“We are trying to educate families and patients to increase awareness,” said Kelly Vallance, M.D., MPH. “But also to catch the cancer early, know the warning signs and find the way we are able to intervene and give these kids the normal lives they deserve. We do that by catching it early and teaching them what to look for.”

The Genetic-Oncology Clinic provides care and counseling to children and their families with a predisposition to cancer. The program, one of only a few in the country, is a collaboration among pediatric oncologists, geneticists and genetic counselors who provide education, guidance, therapy and routine cancer surveillance studies when indicated for children with a predisposition to cancer.

Patients range from newborns to adults through the Life After Cancer Program at Cook Children's.

"Research coming out now recommends that almost all pediatric solid tumor patients, as well as certain leukemia patients, have genetic testing done to see if they are at increased risk for developing secondary malignancies," said Heather Jernigan, a hematology and oncology clinic nurse and the nurse coordinator of Genetic-Oncology Clinic since it started a year and a half ago. "We know that almost every patient who gets cancer treatment is at risk for developing secondary malignancies. What we are learning is that with some patients with genetic predisposition syndrome that risk increases."

Becky Althaus was a catalyst to making the clinic a reality. Althaus worked with Mary Kukolich, M.D., medical director of Genetics, 40 years ago. The two of them worked together for about 19 years and Althaus said that’s where she was taught about genetics. She already owned a masters in nursing, and then became certified as a genetics counselor, earned her Ph.D. in genetics and a nurse practitioner. She went on to help start genetic-oncology programs in three different locations before coming full circle by joining Cook Children’s and working with Dr. Kukolich again.

“Between 10 to 14 percent of all pediatric cancers have a genetic component, so that means they have a genetic predisposition,” Althaus said. “Because of that we really need to be testing most children who are diagnosed with cancer.”

Genes are passed from parents to offspring and specify traits. Humans have approximately 20,000 genes. A mutation is a change in the DNA sequence that can occur in one of two types of genes:

• Somatic mutations occur in body and cells and are not passed on. They weren’t born with a predisposition.
• Germ line mutations occur in the eggs and sperm and can be passed on to offspring. This is a hereditary gene, meaning the child was born at risk for cancer at the moment of conception.

The Genetic-Oncology Clinic sees patients who are at risk for having cancer passed on to them genetically. That can mean their siblings or other family members could be at risk for developing the same cancer, or that the patients may eventually pass the gene on to their own children.

“A lot of times hearing the information for the first time is very difficult, surprising and causes a lot of fears for families, parents and patients,” Dr. Vallance said. “Especially our older cancer survivors who are being tested. To learn that they may be at risk for a second cancer and they may be at risk for passing along a gene that may predispose their children to developing cancer. At first it’s a lot of information to process. Over time everyone has been appreciative of knowing. I’ve not found anyone who says they wish they didn’t know. It gives them almost a sense of power that they know what to look for. They can educate themselves further. They can think seriously about not smoking, or eating healthier or taking better care of themselves. It empowers the families a little bit. It allows us to initiate early screenings and help them.”

Patients with predisposed cancers such as melanoma and leukemia are seen in the clinic. The clinic also allows for other specialties to be brought in during a patient's visit. For example, gastroenterology doctors and surgeons are brought in to help FAP (familial adenomatous polyposis) patients because they are at such and increased rate to develop colon cancer early in life before the age of 40.

The FAP patients are recommended to begin colonoscopies from ages 10 to 15, depending on symptoms. Jernigan works very closely with the GI staff through the clinic to schedule the patient's procedures.

“Certainly the care we provide each patient kind of expands to care for the whole family,” Vallance said. “A lot of our patients come to us because they’ve just been diagnosed with cancer. We’ve had many patients that may have just lost a parent to kidney cancer or colon cancer or multiple family members and now they find out they have this gene. Through our clinic we really want to be able to support the child and the family, provide social service support as needed and clinical therapy as we can. We can coordinate with the GI specialists and the surgeons and get these families the full care they need. I’m proud of our group that we really work hard together to make sure that anyone that may be affected in the family can get the support and the services they need too.”

Althaus says her heart breaks when she has to tell parents that their child has cancer, but she says the testing involved in the clinic can also bring comfort too.

For example, a parent dies at a young age from melanoma. A child can be tested to see if he or she is predisposed to the gene because of the high risk factor of developing the same cancer.

“That’s something the child might not have known about if we hadn’t done this testing,” Althaus said. “Now the child is getting closer surveillance from our staff for melanoma and pancreatic cancer in the future and if it’s detected, it is more likely to be in a treatable stage. This is truly life-saving work – genetic testing and counseling. It’s exciting to be a part of this. The impact can be for 50 or 70 years because we are seeing many of these patients at such an early age. If we can prevent cancer that has to be our ultimate goal for existence. It’s just so rewarding to think we might be able to prevent cancer or we might be able to detect cancer early for which a child is predisposed and save a life.”

Currently, the clinic is once a month and the genetics-oncology team sees about 20 patients a day. If a child does have a genetic form of cancer, other family members will then be looked at right away.

"I'm a nurse, but I'm a mom too and if the roles were reversed and somebody told me, 'Hey there's a chance your child might develop cancer I would want to know everything there is to know and I would want to make sure there's someone knowledgeable I could contact," Jernigan said. "I think our families trust us and that's why they are in treatment or surveillance. They trust the information we are giving them. It is the most up to date information we have. We are providing family-centered care. We are going to give that family our undivided attention while they are at the clinic. That says a lot about what we are able to offer kids and families at Cook Children's. I think it's important that we continue to do that for families in every way possible."

One way that Jernigan says the clinic could help patients is answering a simple question for parents whose child has cancer: Why?

"That's one of the amazing things that Becky brought to us that Dr. Vallance and I didn't even know about," Jernigan said. "If we are able to say, 'You know what? You have a genetic predisposition syndrome that was probably going to happen no matter what. Number one, we are able to give those families a reason for why their child developed cancer, but we are also able to test the rest of the family. That can give everyone peace of mind."

Althaus said those answers are what makes the clinic rewarding.

“It’s so rewarding to be able to give the parents the why and how it happened to begin with,” Althaus said. “That is such a basic need for families when they have a difficult diagnosis and we are able to either prevent a new cancer or detect a new cancer very early that might have been life threatening for that child. If we know ahead of time and we are looking for it, we can catch it when it’s just a tiny cancer and when treatment is so much more effective. This means the chance for a cure is so much greater.”